Incidental Mutation 'R0732:Tcf20'
ID 67693
Institutional Source Beutler Lab
Gene Symbol Tcf20
Ensembl Gene ENSMUSG00000041852
Gene Name transcription factor 20
Synonyms stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP
MMRRC Submission 038913-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R0732 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82808436-82987872 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82852303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1649 (L1649P)
Ref Sequence ENSEMBL: ENSMUSP00000105136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229439] [ENSMUST00000229547] [ENSMUST00000230403]
AlphaFold Q9EPQ8
Predicted Effect probably benign
Transcript: ENSMUST00000048966
AA Change: L1649P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: L1649P

DomainStartEndE-ValueType
low complexity region 42 74 N/A INTRINSIC
coiled coil region 163 203 N/A INTRINSIC
low complexity region 248 277 N/A INTRINSIC
low complexity region 322 354 N/A INTRINSIC
low complexity region 396 416 N/A INTRINSIC
low complexity region 443 456 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
low complexity region 511 523 N/A INTRINSIC
low complexity region 684 715 N/A INTRINSIC
low complexity region 1047 1056 N/A INTRINSIC
low complexity region 1532 1544 N/A INTRINSIC
low complexity region 1577 1593 N/A INTRINSIC
low complexity region 1602 1617 N/A INTRINSIC
low complexity region 1793 1804 N/A INTRINSIC
low complexity region 1860 1874 N/A INTRINSIC
PHD 1913 1960 6.7e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109510
AA Change: L1649P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: L1649P

DomainStartEndE-ValueType
low complexity region 42 74 N/A INTRINSIC
coiled coil region 163 203 N/A INTRINSIC
low complexity region 248 277 N/A INTRINSIC
low complexity region 322 354 N/A INTRINSIC
low complexity region 396 416 N/A INTRINSIC
low complexity region 443 456 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
low complexity region 511 523 N/A INTRINSIC
low complexity region 684 715 N/A INTRINSIC
low complexity region 1047 1056 N/A INTRINSIC
low complexity region 1532 1544 N/A INTRINSIC
low complexity region 1577 1593 N/A INTRINSIC
low complexity region 1602 1617 N/A INTRINSIC
low complexity region 1793 1804 N/A INTRINSIC
low complexity region 1860 1874 N/A INTRINSIC
PHD 1913 1960 6.7e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229439
Predicted Effect probably benign
Transcript: ENSMUST00000229547
Predicted Effect probably benign
Transcript: ENSMUST00000230403
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,546,448 (GRCm38) Y1175C probably damaging Het
Acsm3 T C 7: 119,773,834 (GRCm38) S187P probably benign Het
Adam28 T C 14: 68,637,347 (GRCm38) I294V probably benign Het
Adgrv1 T C 13: 81,503,004 (GRCm38) I3057M possibly damaging Het
Aff4 T C 11: 53,375,596 (GRCm38) V304A probably benign Het
Akr1b10 T C 6: 34,390,109 (GRCm38) Y108H probably benign Het
Ankib1 T C 5: 3,713,163 (GRCm38) N522S possibly damaging Het
Ano1 T A 7: 144,619,488 (GRCm38) probably null Het
Antxr2 G T 5: 97,960,708 (GRCm38) probably null Het
Arc G A 15: 74,671,195 (GRCm38) T393I probably damaging Het
Arhgef33 A G 17: 80,381,354 (GRCm38) D5G possibly damaging Het
Atf2 A T 2: 73,845,500 (GRCm38) M169K possibly damaging Het
BC005624 T A 2: 30,973,937 (GRCm38) T215S possibly damaging Het
BC048403 T C 10: 121,750,947 (GRCm38) V253A possibly damaging Het
Bmp8b G A 4: 123,105,406 (GRCm38) G19D unknown Het
Cacna1d T C 14: 30,042,920 (GRCm38) N1987S probably damaging Het
Camta1 T A 4: 151,586,484 (GRCm38) probably null Het
Catsperg2 C T 7: 29,700,696 (GRCm38) G316D probably damaging Het
Cbs G T 17: 31,625,029 (GRCm38) N209K probably benign Het
Ccdc122 T A 14: 77,091,759 (GRCm38) M84K probably damaging Het
Cd5 C T 19: 10,723,285 (GRCm38) C285Y probably damaging Het
Chpf2 T C 5: 24,590,421 (GRCm38) M1T probably null Het
Coch T A 12: 51,595,372 (GRCm38) D42E probably damaging Het
Crip2 C T 12: 113,140,558 (GRCm38) probably benign Het
Crlf2 G C 5: 109,557,138 (GRCm38) P67R probably damaging Het
Cxcl16 G T 11: 70,455,408 (GRCm38) P233H probably damaging Het
Cyfip1 T C 7: 55,886,781 (GRCm38) I319T probably damaging Het
Ddhd2 T C 8: 25,741,321 (GRCm38) Q364R probably damaging Het
Ephx2 A G 14: 66,086,963 (GRCm38) probably null Het
Exoc6b C A 6: 84,855,522 (GRCm38) V397L probably damaging Het
Fam83b T A 9: 76,492,928 (GRCm38) K298* probably null Het
Fbxo8 T A 8: 56,591,529 (GRCm38) I289N probably damaging Het
Fkbp9 T A 6: 56,878,104 (GRCm38) M536K probably benign Het
Flot1 C T 17: 35,825,524 (GRCm38) R190W possibly damaging Het
Gbp2b T A 3: 142,606,978 (GRCm38) V374E probably benign Het
Gm884 T C 11: 103,619,838 (GRCm38) T435A unknown Het
Gna15 T A 10: 81,512,556 (GRCm38) S114C probably damaging Het
Gstt4 T A 10: 75,817,321 (GRCm38) T136S probably benign Het
Hcn3 C T 3: 89,148,786 (GRCm38) V524M probably damaging Het
Kctd16 A T 18: 40,258,563 (GRCm38) D68V probably damaging Het
Krt90 G T 15: 101,560,425 (GRCm38) F227L possibly damaging Het
Maip1 A G 1: 57,411,835 (GRCm38) Y212C probably damaging Het
Mamdc2 C T 19: 23,378,869 (GRCm38) D72N probably damaging Het
Marveld3 A T 8: 109,948,483 (GRCm38) Y234N probably damaging Het
Mas1 A G 17: 12,841,747 (GRCm38) I263T probably benign Het
Matk T A 10: 81,258,306 (GRCm38) probably null Het
Mrgpre T A 7: 143,781,566 (GRCm38) I67F possibly damaging Het
Mthfd1 T A 12: 76,294,174 (GRCm38) I449N probably damaging Het
Nacc1 C T 8: 84,676,201 (GRCm38) R321Q probably damaging Het
Neb T C 2: 52,291,268 (GRCm38) Y1109C probably damaging Het
Neb T C 2: 52,258,681 (GRCm38) D2618G probably damaging Het
Nell1 T G 7: 50,856,387 (GRCm38) W781G probably damaging Het
Olfr1037 A C 2: 86,085,584 (GRCm38) S64R probably benign Het
Olfr1269 A G 2: 90,119,322 (GRCm38) V92A probably benign Het
Olfr1279 T A 2: 111,306,980 (GRCm38) Y258* probably null Het
Olfr281 T C 15: 98,457,078 (GRCm38) L256S possibly damaging Het
Olfr424 A T 1: 174,137,415 (GRCm38) I224F possibly damaging Het
Olfr497 C A 7: 108,422,577 (GRCm38) A2D probably benign Het
Olfr544 T C 7: 102,484,443 (GRCm38) I226V probably benign Het
Olfr646 T C 7: 104,106,294 (GRCm38) L5P probably damaging Het
Pcdh7 C A 5: 57,721,315 (GRCm38) D737E probably damaging Het
Pdss1 T G 2: 22,901,312 (GRCm38) M55R probably benign Het
Pex6 C T 17: 46,724,700 (GRCm38) R889W probably damaging Het
Pigl T A 11: 62,458,481 (GRCm38) C8S possibly damaging Het
Plekha7 A T 7: 116,145,237 (GRCm38) M585K probably damaging Het
Ppp1r1a C T 15: 103,533,087 (GRCm38) M66I possibly damaging Het
Ptcd3 A T 6: 71,881,171 (GRCm38) probably benign Het
Rhov A T 2: 119,271,014 (GRCm38) V37E probably damaging Het
Rnf213 A T 11: 119,441,068 (GRCm38) M2368L probably damaging Het
Skida1 T C 2: 18,046,157 (GRCm38) probably benign Het
Slc25a28 T C 19: 43,666,953 (GRCm38) D161G probably benign Het
Smc6 T C 12: 11,290,817 (GRCm38) V490A probably damaging Het
Sohlh2 T A 3: 55,190,373 (GRCm38) probably null Het
Stk31 A G 6: 49,417,495 (GRCm38) T264A probably benign Het
Syngap1 T A 17: 26,954,988 (GRCm38) S190R possibly damaging Het
Tacr1 T A 6: 82,552,901 (GRCm38) V200E probably damaging Het
Tbrg4 C T 11: 6,620,812 (GRCm38) R220H probably benign Het
Tcirg1 A T 19: 3,897,866 (GRCm38) L523Q possibly damaging Het
Tinag T A 9: 77,001,654 (GRCm38) K335M possibly damaging Het
Tkt T G 14: 30,571,140 (GRCm38) probably null Het
Tnpo1 C T 13: 98,863,812 (GRCm38) R349H probably damaging Het
Trim26 T A 17: 36,852,618 (GRCm38) S230R possibly damaging Het
Trim8 T A 19: 46,514,739 (GRCm38) probably null Het
Trp53bp1 T C 2: 121,248,264 (GRCm38) R326G probably null Het
Ugt2a2 A T 5: 87,460,639 (GRCm38) I613N probably damaging Het
Vmn1r32 T C 6: 66,553,706 (GRCm38) I29V probably benign Het
Wnt5b C T 6: 119,446,582 (GRCm38) W27* probably null Het
Other mutations in Tcf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Tcf20 APN 15 82,854,895 (GRCm38) missense probably damaging 1.00
IGL00229:Tcf20 APN 15 82,857,142 (GRCm38) missense possibly damaging 0.50
IGL00539:Tcf20 APN 15 82,852,756 (GRCm38) missense probably benign 0.41
IGL00576:Tcf20 APN 15 82,856,075 (GRCm38) missense probably damaging 1.00
IGL01135:Tcf20 APN 15 82,853,900 (GRCm38) missense probably benign
IGL01670:Tcf20 APN 15 82,855,363 (GRCm38) missense possibly damaging 0.77
IGL01684:Tcf20 APN 15 82,857,160 (GRCm38) missense probably damaging 1.00
IGL01767:Tcf20 APN 15 82,856,008 (GRCm38) missense probably damaging 1.00
IGL01825:Tcf20 APN 15 82,852,966 (GRCm38) missense probably benign
IGL01834:Tcf20 APN 15 82,855,697 (GRCm38) missense probably damaging 0.99
IGL01836:Tcf20 APN 15 82,855,155 (GRCm38) missense probably damaging 0.99
IGL02415:Tcf20 APN 15 82,853,459 (GRCm38) missense probably benign 0.28
IGL02731:Tcf20 APN 15 82,853,237 (GRCm38) missense probably benign 0.00
IGL02739:Tcf20 APN 15 82,856,080 (GRCm38) missense probably damaging 1.00
IGL03058:Tcf20 APN 15 82,852,004 (GRCm38) missense probably damaging 0.96
PIT4131001:Tcf20 UTSW 15 82,851,584 (GRCm38) missense probably damaging 0.96
R0184:Tcf20 UTSW 15 82,852,300 (GRCm38) missense probably damaging 0.99
R0207:Tcf20 UTSW 15 82,855,085 (GRCm38) missense probably benign
R1502:Tcf20 UTSW 15 82,855,576 (GRCm38) missense probably damaging 1.00
R1575:Tcf20 UTSW 15 82,855,492 (GRCm38) missense probably benign 0.19
R1719:Tcf20 UTSW 15 82,852,777 (GRCm38) missense probably benign 0.03
R1997:Tcf20 UTSW 15 82,857,230 (GRCm38) nonsense probably null
R2152:Tcf20 UTSW 15 82,855,602 (GRCm38) missense probably damaging 1.00
R2173:Tcf20 UTSW 15 82,854,692 (GRCm38) missense possibly damaging 0.62
R2288:Tcf20 UTSW 15 82,851,685 (GRCm38) missense probably benign
R4049:Tcf20 UTSW 15 82,853,429 (GRCm38) missense probably damaging 1.00
R4496:Tcf20 UTSW 15 82,854,984 (GRCm38) missense probably damaging 1.00
R4704:Tcf20 UTSW 15 82,851,727 (GRCm38) missense possibly damaging 0.49
R4892:Tcf20 UTSW 15 82,854,199 (GRCm38) missense possibly damaging 0.80
R5164:Tcf20 UTSW 15 82,856,603 (GRCm38) missense probably damaging 1.00
R5207:Tcf20 UTSW 15 82,856,185 (GRCm38) missense probably damaging 0.98
R5219:Tcf20 UTSW 15 82,856,381 (GRCm38) missense probably damaging 1.00
R5228:Tcf20 UTSW 15 82,855,955 (GRCm38) missense probably benign 0.01
R5288:Tcf20 UTSW 15 82,855,709 (GRCm38) missense possibly damaging 0.50
R5374:Tcf20 UTSW 15 82,851,957 (GRCm38) missense probably damaging 0.99
R5384:Tcf20 UTSW 15 82,856,199 (GRCm38) missense probably damaging 0.99
R5677:Tcf20 UTSW 15 82,853,242 (GRCm38) missense probably benign 0.05
R5897:Tcf20 UTSW 15 82,851,783 (GRCm38) nonsense probably null
R6089:Tcf20 UTSW 15 82,853,208 (GRCm38) missense probably benign 0.06
R6196:Tcf20 UTSW 15 82,851,986 (GRCm38) missense possibly damaging 0.89
R6229:Tcf20 UTSW 15 82,854,880 (GRCm38) missense probably damaging 1.00
R6448:Tcf20 UTSW 15 82,852,660 (GRCm38) missense probably benign
R6688:Tcf20 UTSW 15 82,854,535 (GRCm38) missense possibly damaging 0.68
R7009:Tcf20 UTSW 15 82,854,682 (GRCm38) missense probably benign 0.07
R7051:Tcf20 UTSW 15 82,856,078 (GRCm38) missense probably damaging 1.00
R7215:Tcf20 UTSW 15 82,853,489 (GRCm38) missense probably benign
R7486:Tcf20 UTSW 15 82,853,734 (GRCm38) missense possibly damaging 0.78
R7583:Tcf20 UTSW 15 82,855,276 (GRCm38) missense possibly damaging 0.82
R7678:Tcf20 UTSW 15 82,851,565 (GRCm38) missense possibly damaging 0.92
R8090:Tcf20 UTSW 15 82,856,006 (GRCm38) missense probably damaging 1.00
R8156:Tcf20 UTSW 15 82,852,937 (GRCm38) missense probably benign 0.00
R8191:Tcf20 UTSW 15 82,853,405 (GRCm38) nonsense probably null
R8259:Tcf20 UTSW 15 82,852,273 (GRCm38) missense probably damaging 1.00
R8339:Tcf20 UTSW 15 82,852,676 (GRCm38) missense probably benign 0.04
R8447:Tcf20 UTSW 15 82,853,236 (GRCm38) missense possibly damaging 0.77
R8497:Tcf20 UTSW 15 82,855,951 (GRCm38) missense probably benign 0.07
R8728:Tcf20 UTSW 15 82,854,957 (GRCm38) missense probably damaging 1.00
R8829:Tcf20 UTSW 15 82,855,714 (GRCm38) missense probably damaging 1.00
R8861:Tcf20 UTSW 15 82,852,525 (GRCm38) missense probably damaging 0.99
R9177:Tcf20 UTSW 15 82,856,504 (GRCm38) missense probably benign 0.00
R9268:Tcf20 UTSW 15 82,856,504 (GRCm38) missense probably benign 0.00
R9294:Tcf20 UTSW 15 82,852,696 (GRCm38) missense probably benign 0.11
R9648:Tcf20 UTSW 15 82,855,675 (GRCm38) missense probably damaging 1.00
R9675:Tcf20 UTSW 15 82,856,785 (GRCm38) missense probably damaging 1.00
R9729:Tcf20 UTSW 15 82,851,836 (GRCm38) missense probably benign 0.25
RF019:Tcf20 UTSW 15 82,851,593 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAAGACTCTGTTACCACAGGCCC -3'
(R):5'- GGCAGCACCACTAATCTTTCCTGAC -3'

Sequencing Primer
(F):5'- TGAAGCTGGGAGCACCTTG -3'
(R):5'- CCTAAAGGGTATTTCCCATCAGG -3'
Posted On 2013-09-03